Intermittent form of maple syrup urine disease: report of one case.
We present a Chinese female infant with an intermittent form of MSUD whose early development was relatively well. A total of three episodes of stupor and metabolic acidosis developed with a concurrent illness after the age of 13 months. The initial analyses of plasma amino acid and urinary organic acid were normal. Initially, an abnormal oral glucose lactate stimulation test and high signal in the bilateral globus pallidus over T2-weighted brain MRI led us to suspect a mitochondrial disorder. The final diagnosis was made after the patient died at 31 months of age.
Li
P H
PH
Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, R.O.C.
Ma
J S
JS
Chi
C S
CS
Mak
S C
SC
D005260:Female; D006801:Humans; D007223:Infant; D008375:Maple Syrup Urine Disease / Q000175:diagnosis*